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Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls.

Abstract
We report monozygotic twin girls with a combination of bilateral severe sensorineural deafness diagnosed at the age of 3 years, normal primary dentition but enamel hypoplasia affecting the secondary dentition and Beau's lines and leukonychia of the nails. This constellation of findings has been previously described in three case reports as Heimler syndrome, first documented in 1991.
AuthorsK R Ong, S Visram, S McKaig, L A Brueton
JournalEuropean journal of medical genetics (Eur J Med Genet) Vol. 49 Issue 2 Pg. 187-93 ( 2006) ISSN: 1769-7212 [Print] Netherlands
PMID16530715 (Publication Type: Case Reports, Journal Article, Review, Twin Study)
Topics
  • Amelogenesis Imperfecta (diagnosis)
  • Child
  • Child, Preschool
  • Female
  • Hearing Loss, Sensorineural (diagnosis)
  • Humans
  • Nails, Malformed (diagnosis)
  • Syndrome
  • Twins, Monozygotic

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